Linfoma de Hodgkin: neuronopatía sensitiva y autonómica como manifestación paraneoplásica / Hodgkin's lymphoma: sensitive and autonomic neuropa thy as a paraneoplastic manifestation

Resumen El linfoma de Hodgkin (LH) comprende un grupo heterogéneo de neoplasias linfoides cuyo origen radica en linfocitos B. Las manifestaciones neurológicas de dicha enfermedad son infrecuentes, pudiendo tener su origen por invasión directa de las células neoplásicas en el sistema nervioso, o indirectamente, a través de síndromes paraneoplásicos o como complicación del tratamiento. Dentro de los síndromes neurológicos paraneoplásicos que afectan a pacientes con LH, la degeneración cerebelosa paraneoplásica es la más frecuente. Otros reportados con menor frecuencia en series de casos o casos aislados incluyen encefalitis límbica, neuronopatía sensitiva, motora y autonómica. Estos pueden ser la manifestación inicial de la enfer medad neoplásica, y la falta de conocimiento de dicha asociación puede retrasar el diagnóstico, con inicio tardío del tratamiento y peor pronóstico. Reportamos el caso de una mujer con LH que presentó al inicio de su enfermedad neuronopatía sensitiva y autonómica como manifestaciones neurológicas paraneoplásicas. Una vez iniciado el tratamiento específico para su lin foma, la neuronopatía autonómica tuvo resolución casi completa a diferencia de la neuronopatía sensitiva, la cual demostró escasa recuperación.

Abstract Hodgkin lymphoma (HL) comprises a heterogeneous group of lymphoid neoplasms whose origin lies in B lym phocytes. The neurological manifestations of this pathol ogy are infrequent, and may arise from direct invasion of neoplastic cells to the nervous system, or indirectly, through paraneoplastic syndromes or as a complication of treatment. Among the neurological paraneoplastic syndromes that affect patients with HL, paraneoplastic cerebellar degeneration is the most common. Other few cases include limbic encephalitis, sensory, motor, and autonomic neuronopathy. These syndromes can be the initial manifestation of neoplastic disease, and the lack of information regarding this association can lead to a delay in diagnosis and consequently in the initiation of therapy worsening the prognosis. We report the case of a woman with HL who presented sensory and autonomic neuronopathy at the onset of her disease as paraneo plastic neurological manifestations. After the initiation of the specific treatment for the lymphoma, the autonomic neuronopathy had almost complete resolution, unlike the sensory neuronopathy, which showed limited recovery.

Intoxicación por metanol por consumo de bebidas alcohólicas adulteradas. Efectos en el sistema nervioso. Reporte de un caso / Methanol Poisoning by Consumption of Adulterated Alcoholic Beverages. Effects on the Nervous System. A Case Report

Resumen La intoxicación por metanol puede ocurrir de forma inadvertida por la ingesta de bebidas alcohólicas adulteradas. Se trata una entidad poco frecuente, sin embargo, se ha reportado un aumento en la incidencia durante la pandemia de COVID-19. La intoxicación con metanol representa una urgencia médica, ya que puede provocar daño severo en el sistema nervioso central y periférico, además de acidosis metabólica, daño renal agudo e incluso la muerte. En este artículo se presenta el caso de un paciente que cursó con intoxicación por metanol de manera inadvertida al consumir bebidas alcohólicas presumiblemente adulteradas. En el encéfalo se demostró necrosis hemorrágica de ambos núcleos putamen, además de cursar con neuritis óptica bilateral y polineuropatía periférica. Fue manejado con pulsos de esteroides intravenosos, con lo cual, mejoró significativamente su función visual, sensitiva y motora. En el presente caso no existieron complicaciones fatales y presentó una buena respuesta al tratamiento, sin embargo, el caso pone de relieve la necesidad de una mejor regulación en la producción y comercialización de bebidas alcohólicas en nuestro país, y, por otro lado, permite hacer a un llamado a los consumidores a tomar más precauciones en el consumo de bebidas alcohólicas de dudosa calidad o procedencia.

Abstract Methanol poisoning can occur unnoticed, by the ingestion of adulterated alcoholic beverages. In general, it is a rare entity, however, an increase in incidence has been reported during the SARS-CoV-2 pandemic. Methanol poisoning represents a medical emergency as it can cause severe damage to the central and peripheral nervous systems, as well as metabolic acidosis, acute kidney injury, and even death. This article presents the case of a patient who inadvertently developed methanol intoxication after consuming presumably adulterated alcoholic beverages. In the brain, hemorrhagic necrosis of both putamen nuclei was demonstrated, in addition to presenting with bilateral optic neuritis and peripheral polyneuropathy. He was managed with intravenous steroid pulses, which significantly improved his visual, sensory, and motor function. In the present case there were no fatal complications and presented a good response to treatment, however, the case highlights the need for better regulation in the production and marketing of alcoholic beverages in our country, and on the other hand, to invite consumers to take more precautions in the consumption of alcoholic beverages of dubious quality or origin.

Gait analysis of a patient with severe motor impairment post- intensive care due to COVID-19: 1 year follow up and physical therapy / Análise da marcha de paciente com comprometimento motor grave após terapia intensiva por COVID-19: acompanhamento de 1 ano e fisioterapia

Abstract Introduction Viral infections, such as infection by SARS-CoV-2, can affect gait biomechanics, but this effect can be overlapped by consequences of critical illness and time in intensive care unit. Objective To report biomechanical alterations during the clinical evolution of a post-COVID-19 patient who presented severe motor impairment after intensive care. Methods Data was collected from the patient's chart at José Silveira Foundation and previous medical reports from the hospitalization period. The patient was wheelchair bound, with physiotherapy twice a week, and by the end of 1-year follow-up was able to walk independently. Three-dimensional gait analysis with kinetics and electromyography were conducted at three time points. Results All spatiotemporal gait parameters, kinematic, kinetic and electromyographic data was importantly altered when compared to the normal range of values. With physiotherapy, gait quality indicators showed important improvements and all muscles presented a significant increase in the magnitude of the electromyographic signal (at least a two-fold increase). Trunk kinematic alterations decreased significantly during this period. Kinetic and kinematic changes perceived in the hips, knees and ankles showed approximation to the expected pattern, however still without normalizing, and patient's muscle coordination improved over time. Conclusion This report has great clinical importance, as it describes, using an instrumented gait laboratory, the evolution of a patient with severe motor impairment post intensive care due to COVID-19, a condition in lack of description in the literature, which will help health professionals in the planning of rehabilitation strategies.

Resumo Introdução Infecções virais, como a infecção por SARS-CoV-2, podem afetar a biomecânica da marcha, mas esse efeito pode ser sobreposto por consequências de doença crítica e tempo em unidade de terapia intensiva. Objetivo Relatar as alterações biomecânicas durante a evolução clínica de um paciente pós-COVID-19 que apresentou comprometimento motor severo após terapia intensiva. Métodos Os dados foram coletados a partir do prontuário do paciente na Fundação José Silveira e dos relatórios médicos anteriores referentes ao período de inter-nação. O paciente estava em cadeira de rodas, com fisioterapia duas vezes por semana, e ao final de 1 ano de acompanhamento era capaz de deambular de forma independente. A análise tridimensional da marcha com cinética e eletromiografia foi realizada em três momentos. Resultados Todos os parâmetros espaço-temporais da marcha, dados cinemáticos, cinéticos e eletromiográficos estavam significativamente alterados quando comparados com a faixa normal de valores. Com a fisioterapia, os indicadores de qualidade da marcha apresentaram melhorias importantes e todos os músculos apresentaram um aumento significativo na magnitude do sinal eletromiográfico (aumento de pelo menos duas vezes). As alterações cinemáticas do tronco diminuíram significativamente neste período. As alterações cinéticas e cinemáticas percebidas nos quadris, joelhos e tornozelos mostraram aproximação do padrão esperado, porém ainda sem normalização, e a coordenação muscular do paciente melhorou com o passar do tempo. Conclusão Este relato é de grande importância clínica, pois descreve, por meio de um laboratório de marcha instrumentado, a evolução de um paciente com comprometimento motor severo após terapia intensiva por COVID-19, quadro pouco descrito na literatura, o que ajudará profissionais de saúde no planejamento de estratégias de reabilitação.

Compromiso sensitivo y polineuropatía periférica como manifestación inicial de enfermedad de Creutzfeldt-Jakob. A propósito de un caso

La enfermedad de Creutzfeldt-Jakob (ECJ) es una rara enfermedad neurodegenerativa con una alta incidencia en Chile respecto del resto del mundo. El cuadro se caracteriza principalmente por desarrollo de demencia rápidamente progresiva y diversos signos neurológicos inespecíficos, siendo el más frecuente la mioclonía. El caso que se describirá a continuación destaca por las manifestaciones iniciales atípicas que presentó el paciente, tales como compromiso sensitivo en región cráneo-cérvico-dorsal y polineuropatía periférica de extremidades inferiores (EEII), lo que significó un retraso en el diagnóstico clínico de la ECJ. Es importante conocer los diferentes síntomas y signos que pueden presentarse en el cuadro clínico de ECJ, tanto típicos como aquellos menos frecuentes, para así poder dar con el diagnóstico de la enfermedad en etapas más tempranas. De igual manera, es fundamental contar con herramientas diagnósticas como la detección de proteína 14-3-3 o proteína Tau en los centros de salud de nuestro país. Esto permitiría al equipo de salud, brindar un manejo de soporte adecuado y oportuno a estos pacientes.

Creutzfeldt-Jakob disease is a rare neurodegenerative disease with a high incidence in Chile compared to the rest of the world. The condition is mainly characterized by the development of rapidly progressive dementia and various nonspecific neurological signs, the most common being myoclonus. The case that will be described below stands out for the atypical initial manifestations that the patient presented, such as sensory compromise in the cranio-cervico-dorsal region and peripheral polyneuropathy of the lower extremities, which meant a delay in the clinical diagnosis of the disease. It is important to know the different symptoms and signs that can be present in the clinical picture of CJD, both typical and those less frequent, in order to be able to diagnose the disease in earlier stages. Similarly, it is essential to have diagnostic tools such as the detection of 14-3-3 protein or Tau protein in health centers in our country. This would allow the health team to provide adequate and timely support management to these patients.

Miositis viral aguda asociada a síndrome de Guillain-Barré

Introducción: Las manifestaciones clínicas del síndrome de Guillain Barré y de la miositis viral aguda son diferentes. Ambos cuadros suelen ser autolimitados y pueden manifestarse tras un cuadro infeccioso. Objetivo: Informar acerca de una presentación inusual de dos afecciones en un mismo paciente. Presentación del caso: Niña de 4 años de edad, quien presenta síntomas de una miositis viral aguda, la que al mejorar, hizo más evidente la sintomatología característica del síndrome de Guillain Barré. El caso se confirmó a través de estudios hematológicos, citología de líquido cefalorraquídeo y estudios neurofisiológicos. La paciente recibió tratamiento con inmunoglobulina G humana intravenoso durante 5 días, tras lo cual presentó mejoría de los síntomas neurológicos. Conclusiones: La afectación del músculo y del sistema nervioso periférico pueden coexistir en la población pediátrica, pero no es condición usual, por lo que se necesita realizar más investigación para poder describir mejor esta entidad y su pronóstico.

Introduction: The clinical manifestations of Guillain Barré syndrome and acute viral myositis are different. Both conditions are usually self-limiting and can manifest after an infectious process. Objective: To report an unusual presentation of two conditions in the same patient. Case presentation: A 4-year-old girl presented with symptoms of acute viral myositis, which, with improvement, made more evident the characteristic symptoms of Guillain Barré syndrome. The case was confirmed through hematological studies, cerebrospinal fluid cytology and neurophysiological studies. The patient was treated with intravenous human immunoglobulin G for 5 days, after which she showed improvement of the neurological symptoms. Conclusions: The involvement of the muscle and the peripheral nervous system may coexist in the pediatric population, but it is not a usual condition, so more research is needed to better describe this entity and its prognosis.

Desde la pérdida de la fuerza hasta el compromiso sistémico: serie de casos del síndrome POEMS / From limb weakness to a systemic involvement: Poems syndrome case two report and review of the literature

El síndrome POEMS es un trastorno paraneoplásico raro y poco frecuente, que se presenta principalmente en la sexta década de la vida, caracterizado por el compromiso multisistémico con predominio de neuropatía desmielinizante. Abarca diversas y heterogéneas manifestaciones clínicas y su diagnóstico requiere un alto índice de sospecha. Se presentan dos casos de pacientes que consultaron por cuadros poco frecuentes en los que la pérdida de la fuerza orientó al acercamiento de una afectación multisistémica que concluyó con el diagnóstico de esta enfermedad(AU)

POEMS syndrome is a rare and infrequent paraneoplastic syndrome, which occurs mainly in the sixth decade of life, characterized by multisystem involvement with a predominance of demyelinating neuropathy, which encompasses diverse and heterogeneous clinical manifestations and whose diagnosis requires a high index of suspicion. We present two cases of patients who consulted due to unusual symptoms and whose loss of strength led to an approach due to multisystem involvement that concluded with the diagnosis of this disease(AU)

Oftalmoplejía infecciosa en un paciente con virus de la varicela-zóster / Infectious ophthalmoplegia in patients with varicella-zoster virus

Introducción: Una de las complicaciones de la reactivación del virus de la varicela-zóster es el compromiso de los nervios craneales; sin embargo, es inusual que se presente como una oftalmoplejía completa. Objetivo: Describir el caso de un adulto inmunocompetente que desarrolló una oftalmoplejía infecciosa por reactivación del virus de la varicela-zóster. Caso clínico: El paciente presentó alteración completa de la motilidad de los músculos extraoculares del ojo izquierdo con compromiso del reflejo pupilar, disminución en la agudeza visual y neuralgia trigeminal concomitante; no tuvo signos o síntomas sugestivos de encefalitis o meningitis. Días antes de la oftalmoplejía aparecieron vesículas en la región frontal y periorbitaria izquierdas. Mediante el estudio del líquido cefalorraquídeo (LCR) con panel para meningitis/encefalitis FilmArray® se documentó positividad solo para el virus de la varicela-zóster. El paciente fue tratado con aciclovir, esteroides y neuromoduladores, con lo cual obtuvo mejoría parcial de sus síntomas a las dos semanas. La discusión se realizó a partir de los pocos reportes de casos encontrados en diferentes bases de datos. Conclusiones: Este caso amplía el entendimiento clínico y terapéutico de una manifestación inusual de esta enfermedad frecuente, que combina un compromiso patológico de varios nervios craneales por la reactivación del virus de la varicela-zóster.

Introduction: Cranial nerve involvement is one of the complications of varicella-zoster virus reactivation; however, presenting complete ophthalmoplegia is unusual. Objective: To describe the case of an immunocompetent adult who developed an infectious ophthalmoplegia due to varicella-zoster virus reactivation. Clinical case: The patient presented complete alteration of the extraocular muscle motility of the left eye with pupillary reflex compromise, decrease in visual acuity and concomitant trigeminal neuralgia. The patient did not present signs or symptoms suggestive of encephalitis or meningitis. Days before the ophthalmoplegia, vesicles appeared in the left frontal and periorbital regions. Cerebrospinal fluid (CSF) examination with FilmArray® meningitis/encephalitis panel documented positivity for varicella-zoster virus only. The patient was treated with acyclovir, steroids and neuromodulators, resulting in partial improvement of his symptoms after two weeks. The discussion was based on the few case reports found in different databases. Conclusions: This case broadens the clinical and therapeutic understanding of an unusual manifestation of this common disease, which combines pathologic involvement of several cranial nerves due to varicella-zoster virus reactivation.

Síndrome POEMS: desafios no diagnóstico de um caso atípico / POEMS syndrome: challenges in the diagnosis of an atypical case

Introdução: Síndrome POEMS trata de um raro evento paraneoplásico, sem relato atual na literatura sobre sua real prevalência. A maior parte dos casos ocorre em homens de meia idade. Relato do Caso:Paciente masculino, 65 anos, com queixa edema e parestesia em pernas que evoluiu para plegia, associada a hiporexia e fadiga. Investigação ambulatorial inicial evidenciou Polirradiculoneuropatia Inflamatória Desmielinizante Crônica (PIDC) de etiologia indefinida. Excluídos secundarismos, o paciente foi diagnosticado com hipotireoidismo primário, hipogonadismo severo, lesões hipercrômicas em pele, ascite, derrame pleural e trombocitose, além de gamopatia monoclonal IgA Lambda por imunofixação sérica. Sorologias virais negativas. Excluída a possibilidade de Mieloma Múltiplo e outras gamopatias, foi aventada a hipótese de Síndrome POEMS, sendo realizada dosagem de VEGF plasmática (425 pg/mL; VR = <96.2). Trata-se de um caso atípico na medida em que, lesões ósseas, presentes em até 97% dos casos, não foram evidenciadas no paciente em questão, tornando desafiador o diagnóstico. Conclusões: O diagnóstico de síndromes raras, embora desafiante, traz ao clínico um olhar mais amplo do paciente na medida em que incrementa o raciocínio clínico. [au]

Introduction: POEMS syndrome is a rare paraneoplastic event, with no current report in the literature about its real prevalence. Most cases occur in middle-aged men. Case Report: Male patient, 65 years old, complaining of edema and paresthesia in the legs that evolved to plegia, associated with hyporexia and fatigue. Initial outpatient investigation revealed Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) of undefined etiology. Excluding secondaries, the patient was diagnosed with primary hypothyroidism, severe hypogonadism, hyperchromic skin lesions, ascites, pleural effusion and thrombocytosis, in addition to monoclonal IgA Lambda gammopathy by serum immunofixation. Viral serologies was negative. Excluding the possibility of Multiple Myeloma and other gammopathies, the hypothesis of POEMS Syndrome was raised, and plasma VEGF measurement was performed (425 pg/mL; RV = <96.2). This is an atypical case in that bone lesions, present in up to 97% of cases, were not evidenced in the patient in question, making the diagnosis challenging. Conclusions: The diagnosis of rare syndromes, although challenging, brings the clinician a broader view of the patient as it increases clinical reasoning. [au]

Algunos aspectos actualizados sobre la polineuropatía diabética / Some up-to-date aspects on the diabetic polyneuropathy

La diabetes mellitus es una enfermedad crónica que puede causar complicaciones multiorgánicas como la polineuropatía diabética, con el consecuente trastorno invalidante a quienes la padecen. Por tal motivo, se realizó una revisión bibliográfica exhaustiva con el objetivo de actualizar algunos aspectos importantes sobre esta afección, tales como concepto, factores de riesgo, mecanismos patogénicos, clasificación, diagnóstico y tratamiento, entre otros. Se concluye que esta enfermedad se asocia con varios factores de riesgo, su diagnóstico es fundamentalmente clínico y como tratamiento se considera el control glucémico, el cuidado de los pies y el uso de fármacos.

The diabetes mellitus is a chronic disease that can cause multiorganic complications as the diabetic polyneuropathy, with the consequent invalidant disorder to whom suffer from it. For such a reason, an exhaustive literature review was carried out with the objective of upgrading some important aspects on this affection, such as concept, risk factors, pathogenic mechanisms, classification, diagnosis and treatment, among others. It was concluded that this disease is associated with several risk factors, its diagnosis is fundamentally clinical and the glycemic control, the care of feet and the use of medicines are considered as treatment.

Síndrome POEMS: desafios no diagnóstico de um caso atípico / POEMS syndrome: challenges in the diagnosis of an atypical case

Introdução: Síndrome POEMS trata de um raro evento paraneoplásico, sem relato atual na literatura sobre sua real prevalência. A maior parte dos casos ocorre em homens de meia idade; Relato do Caso: Relatamos o caso de um paciente masculino, 65 anos, admitido com queixa edema e parestesia em pernas que evoluiu para plegia, associada a hiporexia e fadiga. Investigação ambulatorial inicial evidenciou polirradiculoneuropatia inflamatória desmielinizante crônica (PIDC) de etiologia indefinida. Excluídos secundarismos para polirradiculoneuropatia inflamatória desmielinizante crônica, o paciente foi a seguir diagnosticado com hipotireoidismo primário, hipogonadismo severo, lesões hipercrômicas em pele, ascite, derrame pleural e trombocitose, além de gamopatia monoclonal IgA Lambda por imunofixação sérica. Sorologias para HIV, Sífilis e Hepatites todas negativas. Excluída a possibilidade de Mieloma Múltiplo e outras gamopatias, foi aventada a hipótese de Síndrome POEMS, sendo realizada dosagem de Fator de Crescimento Endotelial Vascular (VEGF) plasmática (425 pg/mL; VR = <96.2). O paciente passou então a preencher os critérios obrigatórios para diagnóstico, além de um maior (VEGF elevada) e vários outros menores. Trata-se de um caso atípico na medida em que, lesões ósseas, presentes em até 97% dos casos, não foram evidenciadas no paciente em questão, tornando desafiador o diagnóstico e sendo então necessário recorrer à dosagem de VEGF. O diagnóstico de síndromes raras, embora desafiante, traz ao clínico um olhar mais amplo do paciente na medida em que incrementa o raciocínio clínico. Difundir e explorar esse universo é cada vez mais necessário

Introduction: POEMS syndrome is a rare paraneoplastic event, with no current report in the literature about its real prevalence. Most cases occur in middle-aged men; Case Report: We report the case of a male patient, 65 years old, admitted with complaints of edema and paresthesia in the legs that progressed to plegia, associated with hyporexia and fatigue. Initial outpatient investigation revealed Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) of undefined etiology. Excluding secondaries for chronic inflammatory demyelinating polyradiculoneuropathy, the patient was subsequently diagnosed with primary hypothyroidism, severe hypogonadism, hyperchromic skin lesions, ascites, pleural effusion and thrombocytosis, in addition to monoclonal IgA Lambda gammopathy by serum immunofixation. All serologies for HIV, Hepatitis and syphilis were negative. Excluding the possibility of Multiple Myeloma and other gammopathies, the hypothesis of POEMS Syndrome was raised, and plasma Vascular Endotelial Growth Factor (VEGF) measurement was performed (425 pg/mL; RV = <96.2). The patient then started to fulfill the mandatory criteria for diagnosis, in addition to a major (elevated VEGF) and several other minors. This is an atypical case in that bone lesions, present in up to 97% of the cases, were not evidenced in the patient in question, making the diagnosis challenging and therefore requiring the use of VEGF dosage. The diagnosis of rare syndromes, although challenging, brings the clinician a broader view of the patient as it increases clinical reasoning. Spreading and exploring this universe is increasingly necessary

Familial amyloid polyneuropathy: a proposal for an epidemiological study through the creation of a virtual platform / Polineuropatia amiloidótica familiar: uma proposta de estudo epidemiológico por meio da criação de uma plataforma virtual

Amyloidosis are characterized by mutations in the gene coding for transthyretin (TTR), located on chromosome 18. TTR is a set of four 127-aminoacid polypeptides structured as homotetrameric protein of 56 kDa with a secondary ß sheet structure. It plays the role of thyroxin (T4) carrier, and has a binding domain for retinol (vitamin A). It is synthesized in the liver, although a small quantity is also produced by the choroid plexus, and retinal cells. Mutations of this gene result in loss of tetramer stability. Insoluble amyloid fibrils (AF) are formed and deposited in tissues and organs. The abnormal aggregation of TTR protein trigger several syndromes, such as familial amyloid polyneuropathy (FAP-TTR), cardiomyopathies (CMP), and senile systemic amyloidosis (SSA). It is estimated there are 5,000 to 10,000 cases of FAP-TTR globally. OBJECTIVE: The study intends to develop an online platform for the diagnosis of FAP-TTR. The aim is to facilitate the diagnosis process and promote a tool for epidemiological study. METHODS: The project was based on a literature review featuring clinical and epidemiological evidence for the development of a practical platform (applied research). RESULTS: It was elaborated a platform containing a questionnaire to allow a more dynamic, cheaper, and efficient operation, mediated by a better characterization of the disease to enable its early diagnosis. CONCLUSION: The platform might become a valuable resource for the characterization, diagnosis, and future epidemiological study of FAP-TTR

As amiloidoses se caracterizam por mutações no gene codificante da transtirretina (TTR) no cromossomo 18. A proteína TTR compõe-se de uma corrente de polipeptídios de 127 resíduos, que constituem uma proteína homotetramérica de 56kDa com estrutura secundária de folha ß, que serve como proteína de deslocamento para a tiroxina (T4), e uma proteína de ligação ao retinol (vitamina A). O principal local de produção dessa proteína é o fígado, embora uma pequena quantidade seja produzida pelo plexo coroide e pelas células retinianas. O gene codificante da TTR (18q11.2-12) é pequeno (7 kb) e contém quatro éxons. As mutações convertem-se em perda do equilíbrio do tetrâmero proteico. Surgem assim, fibrilas amiloides (FA) em cadeias não ramificadas de 10 a 12 nm de diâmetro e fibrilas indissolúveis, que se condensam nos tecidos e órgãos. As síndromes concernentes ao acúmulo da proteína TTR são: polineuropatia amiloidótica familiar (PAFTTR), miocardiopatias (MCP) e amiloidose sistêmica senil (ASS). Estimativa recente relatou a existência de 5.000 a 10.000 casos de PAFTTR no mundo. OBJETIVO: O estudo objetiva elaborar uma plataforma de diagnóstico PAFTTR on-line para auxiliar como ferramenta de contribuição para o estudo da epidemiologia e facilitar o diagnóstico. MÉTODOS: O projeto baseou-se em uma pesquisa bibliográfica capaz de levantar evidências clínicas e epidemiológicas na elaboração de uma plataforma facilitadora (pesquisa aplicada). RESULTADOS: O resultado alcançado foi a elaboração da plataforma contendo um questionário, que tornará o trabalho dos profissionais mais dinâmico, barato e eficiente, caracterizando melhor a doença e promovendo um diagnóstico precoce. CONCLUSÃO: A plataforma poderá tornar-se recurso valioso para caracterização, diagnóstico e futuro estudo epidemiológico da PAF-TTR

Eficacia de la movilización de células madre en pacientes con Polineuropatía Desmielinizante Inflamatoria Crónica refractaria / Efficacy of mobilization of stem cells in patients with Refractory Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Introducción: La polineuropatía desmielinizante inflamatoria crónica (CIDP) es una enfermedad desmielinizante e inflamatoria de mediación autoinmune. El tratamiento convencional es basado en la inmunomodulación e inmunosupresión. El uso de células madre es una terapia novedosa en los trastornos autoinmune, siendo incluida como terapia. Objetivo: Determinar la eficacia de la movilización de células madre mediante la aplicación del factor estimulador de colonias granulocíticas (F-ECG) en pacientes con CIDP que han recibido otras líneas de tratamiento. Material y Métodos: Se realizó un estudio aleatorizado, doble ciego sobre una cohorte de 45 pacientes con CIDP, donde se administró el (F-ECG) en 25 pacientes y 20 continuaron con el tratamiento habitual, tratados anteriormente con otras variantes terapéuticas por más de tres años, sin respuesta satisfactoria. Resultados: Predominio de los hombres para 64,4 por ciento, la Diabetes Mellitus tuvo mayor asociación y la medicación más usada fueron los esteroides. Los síntomas y signos clínicos mejoraron significativamente tras el tratamiento. Los valores de la puntuación del TCSS al mes y 3 meses después del tratamiento disminuyeron significativamente; pero este decremento no se mantuvo al final del estudio. La velocidad de conducción y el potencial de acción de los nervios sensoriales y motores mejoraron considerablemente después del tratamiento. Conclusiones: La efectividad de la aplicación del (F-ECG) para la mejoría de los síntomas clínicos y resultados de estudios neurofisiológicos evolutivamente son mayores que otras variantes terapéuticas en los primeros meses, con buena seguridad y tolerabilidad, por lo que se puede incluir en la terapéutica convencional para la CIDP(AU)

Introduction: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune demyelinating disease. Conventional treatment is based on immunomodulation and immunosuppression. The use of stem cells is a novel therapy in autoimmune disorders, so it is included as therapy. Objective: To determine the efficacy of mobilization of stem cells by applying granulocyte colony-stimulating factor (G-CSF) in patients with CIDP who have followed other lines of treatment. Material and Methods: A randomized, double-blind study was carried out on a cohort of 45 patients with CIDP. G-CSF was administered to 25 patients and 20 of them continued with the usual treatment. These patients were previously treated with other therapeutic variants for more than three years without satisfactory response. Results: There was a prevalence of men (64.4 percent), Diabetes Mellitus had a greater association, and the most used medications were steroids. Clinical symptoms and signs improved significantly after treatment. TCSS scores significantly decreased at one and three months after treatment, but this decrease was not maintained at the end of the study. The conduction velocity and action potential of sensory and motor nerves improved considerably after treatment. Conclusions: The effectiveness of the use of G-CSF shows an improvement of clinical symptoms. The results of neurophysiological studies have a better course than other therapeutic variants during the first months, with good safety and tolerability, so it can be included in the conventional therapy for the CIDP(AU)

Características clínica y epidemiológicas de pacientes con diagnostico síndrome de Guillain- Barré atendidos en el servicio de medicina física y rehabilitación, 2019 / Clinical and epidemiological characteristics of patients with Guillain-Barré syndrome diagnosis attended in the physical medicine and rehabilitation service, 2019

Introducción: La Gerencia Regional de Salud en Lambayeque, lanza en el 2019 la alerta epidemiológica sobre notificación inmediata de casos de Guillain Barré, frente al aumento de casos confirmados y casos sospechosos de la enfermedad Objetivo: Describir las características clínicas y epidemiológicas de pacientes con diagnóstico de Síndrome de Guillain Barré atendidos en consulta externa en el Servicio de Medicina Física y Rehabilitación del Hospital Nacional Almanzor Aguinaga Asenjo, durante los brotes del año 2019. Materiales y métodos: Estudio descriptivo, retrospectivo. Fueron 48 casos registrados en la base de datos de Epidemiología, 25 fueron evaluados en Consulta Externa en el Servicio de Medicina Física y Rehabilitación; se excluyó 1 caso por gestación. Resultados: De los 24 casos evaluados; 14(58,3%) fueron de sexo femenino y 10(41,7%) masculino. El grupo etario de mayor presentación fue adulto con 12 casos (50%), seguido de adulto mayor 6 (25%). El lugar de procedencia fue Lambayeque, 16 (66,7%); Cajamarca 7(29,2%) y La Libertad; 1 (4.2%). La presentación fue ascendente con 15 casos (62,5%) y descendente con 9 (37,5%). 6 pacientes (25%) no lograron marcha; 3(12,5%) lograron una marcha con apoyo y 15 (62,5%) lograron una marcha independiente. Solo 1 caso (4,17%) presentó afectación de pares craneales. Se encontró arreflexia en 13 pacientes (54,2%). Ningún paciente llegó con fuerza muscular en escala de 0 a 1 tanto en miembros superiores como en miembros inferiores, proximal y distal. Conclusiones: El estudio muestra características epidemiológicas y clínicas de importancia para proyectar objetivos y metas del tratamiento rehabilitador.

Introduction: The Regional Health Management in Lambayeque, launches in 2019 the epidemiological alert on immediate notification of Guillain Barré cases, against the increase in confirmed cases and suspected cases of the disease Objective: Describe the clinical and epidemiological characteristics of patients with diagnosis Guillain Barré Syndrome treated in external medical consultation at the Physical Medicine and Rehabilitation Service of the Almanzor Aguinaga Asenjo National Hospital, during the outbreaks of the year 2019. Materials and methods: Descriptive, retrospective study. There were 48 cases registered in the Epidemiology database, 25 were evaluated in External Consultation in the Physical Medicine and Rehabilitation Service; 1 case per pregnancy was excluded. Results: Of the 24 cases evaluated; 14 (58.3%) were female and 10 (41.7%) male. The age group with the highest presentation was an adult with 12 cases (50%), followed by an older adult 6 (25%). The place of origin was Lambayeque, 16 (66.7%); Cajamarca 7 (29.2%) and La Libertad; 1 (4.2%). The presentation was ascending with 15 cases (62.5%) and descending with 9 (37.5%). 6 patients (25%) failed to march; 3 (12.5%) achieved a march with support and 15 (62.5%)achieved an independent march. Only 1 case (4.17%) presented cranial nerve involvement. Areflexia was found in 13 patients (54.2%). No patient arrived with muscle strength on a scale of 0 to 1 in both upper and lower limbs, proximal and distal. Conclusions: The studys hows epidemiological and clinical characteristics of importance to project objectives and goals of rehabilitative treatment.

Polineuropatía desmielinizante inflamatoria crónica como forma de presentación de lupus eritematoso sistémico / Chronic inflammatory demyelinating polyneuropathy as a form of presentation of systemic lupus erythematosus

Se describe el caso de una mujer de 35 años que presenta polineuropatía desmielinizante inflamatoria crónica como compromiso neurológico en su diagnóstico inicial de lupus eritematoso sistémico (LES). Si bien el compromiso neurológico es de una prevalencia variable en lupus, la asociación que se describe no es frecuente y tiene importantes connotaciones en el tratamiento.

We described a 35 years old female, who developed Chronic inflammatory demyelinating polyneuropathy as neurologic commitment during the early diagnosis in Systemic Lupus Erithematosus (SLE). While the neuropsychiatric commitment has a variable prevalence in SLE, the association that we describe is infrequent and it has important concerns during its treatment.

Secuelas neurológicas del síndrome de Guillain-Barré en pacientes adultos / Neurologic sequelae of Guillain-Barré syndrome in adults

Introducción:el síndrome de Guillain-Barré (SGB) es una polineurorradiculopatía desmielinizante aguda inmunomediada. El síntoma principal es la debilidad muscular. El objetivo del presente estudio es describir las características del episodio agudo, las secuelas neurológicas a largo plazo y cómo estas afectan la situación laboral y las actividades de tiempo libre. Materiales y métodos: estudio realizado en dos fases: primera, descripción retrospectiva de casos; segunda, corte transversal donde se interrogaron las secuelas neurológicas y sus implicaciones. Resultados: se identificaron 63 casos de SGB con edad promedio de 50,79 años (DE 17.8), más frecuente en hombres (61,9%) y cuyo promedio de la escala Hughes en el episodio agudo fue 3,2 (DE ± 10,1). Las principales complicaciones durante la fase aguda fueron neumonía (7,94 %) y úlceras por presión (3,17 %). Se logró contactar vía telefónica a 28 pacientes, 82,1% presentó al menos un síntoma como secuela, 60,7% parestesias, 57,1% fatiga, 50% calambres y 46,4% dolor de características neuropáticas. El 32,1% tuvo cambios o retiro de su trabajo por las secuelas; 21,43% debió modificar sus actividades de tiempo libre. Conclusión: existe alta prevalencia de síntomas residuales discapacitantes después del episodio agudo de SGB con predominio de síntomas sensitivos, coincidiendo con estudios realizados en países desarrollados. Estas alteraciones ocasionan un impacto negativo en la actividad laboral y en la de tiempo libre de los pacientes.

Introduction: Guillain-Barré syndrome (GBS) is an acute immune-mediated demyelinating polyneuropathy. The main symptom encountered is muscle weakness. This study seeks to describe the characteristics of an acute episode, the long-term neurologic sequelae and how they affect patients ́ work and leisure activities. Materials and Methods: a two-phase study comprising a retrospective case description in the first phase followed by a cross sectional study during the second phase in which patients were asked to describe their neurologic sequelae and how they affected them Results: we identified 63 cases of GBS, mean age was 50.79 years (SD 17.8), there was a male preponderance (61.9%) with a 3.2 (SD ± 10.1) average score on the Hughes scale during the acute episode. Major complications during the acute phase were pneumonia (7.94 %) and pressure sores (3.17 %). Phone contact was achieved with 28 patients, 82.1% presented at least one sequelae 60.7% paresthesia, 57.1% fatigue, 50% cramps and 46.4% neuropathic pain. In 32.1% of cases patients ́ work was adjusted or they were removed from work because of their sequelae; 21.43% had to modify their free-time activities. Conclusion: there is a high prevalence of disabling residual symptoms after a GBS acute episode predominantly sensory signs, which coincide with the results of studies conducted in developed countries. Said alterations negatively impact patients ́ work and leisure activities

Polineuropatía desmielinizante inflamatoria crónica como forma de presentación de lupus eritematoso sistémico / Chronic inflammatory demyelinating polyneuropathy such as presentation of systemic lupus erythematosus

Se describe el caso de una mujer de 35 años que presenta polineuropatía desmielinizante inflamatoria crónica como compromiso neurológico en su diagnóstico inicial de lupus eritematoso sistémico (LES). Si bien el compromiso neurológico es de una prevalencia variable en lupus, la asociación que se describe no es frecuente y tiene importantes connotaciones en el tratamiento.

We described a 35 years old female, who developed Chronic inflammatory demyelinating polyneuropathy as neurologic commitment during the early diagnosis in Systemic Lupus Erithematosus (SLE). While the neuropsychiatric commitment has a variable prevalence in SLE, the association that we describe is infrequent and it has important concerns during its treatment.

Síndromes asociados a intoxicación por organofosforados: abordaje médico y fisioterapéutico en cuidado crítico / Syndromes Associated with Organophosphate Poisoning: Medical and Physiotherapy Approach in Critical Care / Síndromes associados a intoxicação por organofosforados: abordagem médica e fisioterapêutica em cuidado crítico

Resumen Introducción: El artículo reporta un caso clínico de intento suicida de un paciente con síndrome intermedio a causa de intoxicación por organofosforados. Para ello se analizó la historia clínica, los exámenes complementarlos y el estudio electromiográflco, y se realizó revisión no sistemática de la literatura. Presentación del caso: Se describe un caso diagnosticado en la unidad de cuidado intensivo, el cual presentó trastornos neuromotores, requerimiento de soporte ventilatorio con destete difícil y extubación fallida, así como el tratamiento médico y fisioterapéutico instaurado. Dentro del manejo de la intoxicación por organo-fosforados se incluye la descontaminación del tóxico, administración de atropina y pralidoxima, diagnóstico oportuno del síndrome intermedio y la prescripción de ejercicio terapéutico. El paciente recibió manejo interdisciplinario, logrando liberación de su condición crítica, pero con persistencia de debilidad muscular proximal; sin embargo, con el ejercicio alcanzó recuperación funcional de sus actividades básicas cotidianas. Conclusión: El panorama mundial de las intoxicaciones por sustancias químicas muestra que son causa de morbilidad y discapacidad importante. Los organofosforados son los plaguicidas más frecuentemente involucrados. Los síntomas y signos clínicos de este tipo de intoxicaciones se clasifican en manifestaciones colinérgicas, el síndrome intermedio y la neuropatía retardada.

Abstract Introduction: The article reports a clinical case of a suicide attempt of a patient with intermediate syndrome due to organophosphate poisoning. Researchers analyzed the clinical history and the complementary examinations and carried out an electro-myographic study and a non-systematic review of the literature. Case presentation: A diagnosed case is described in the unit of intensive care, which presented neuro-motor disorders, required ventilator support with difficult weaning and unsuccessful extubation, as well as the established medical and physiotherapeutic treatment. The management of organophosphate poisoning includes the decontamination of the toxic, the administration of atropine and pralidoxime, the diagnosis of the intermediate syndrome, and the prescription of therapeutic exercise. The patient received interdisciplinary management, achieving liberation from his critical condition but with the persistence of proximal muscular weakness; however, with the exercise, he accomplished functional recovery for basic daily activities. Conclusion: The global outlook of chemical substances poisoning shows that they are a cause of morbidity and significant disability. The organophosphates are the pesticides most frequently involved. The symptoms and the clinical signs of this type of intoxication are classified into cholinergic manifestations, intermediate syndrome, and delayed neuropathy.

Resumo Introdução: O artigo reporta um caso clínico de tentativa suicida de um paciente com síndrome intermeio a causa de intoxicação por organofosforados. Para isto, analisara-se história clínica, os exames complementários e o estudo eletromiográfico, e se realizou revisão não sistemática da literatura. Apresentação do caso: Descreve-se um caso diagnosticado na unidade de cuidado intensivo, o qual apresentou transtornos neuromotores, requerimento de suporte ventilatório com desmame difícil e extubação falhada, tanto como o tratamento médico e fisioterapéutico instaurado. Dentro do manejo da intoxicação por organofosforados se inclui a descontaminação do tóxico, administração de atropina e pralidoxima, diagnóstico oportuno da síndrome intermeia e a prescrição de exercício terapêutico. O paciente recebeu manejo interdisciplinar, conseguindo liberação de sua condição crítica, mas com persisténcia de debilidade muscular proximal; no entanto, com o exercício alcançou recuperação funcional de suas atividades básicas cotidianas. Conclusão: O panorama mundial das intoxicações por substâncias químicas mostra que são causa de morbilidade e deficiência importante. Os organofosforados são os pesticidas mais frequentemente envolvidos. Os sintomas e signos clínicos deste tipo de intoxicações classificam-se em manifestações colinérgicas, a síndrome intermeia e a neuropatia retardada.

Mycoplasma Pneumoniae, asociado a polineuropatía axonal autoinmune, ¿variante clínica del síndrome Guillain-Barré en niños? / Mycoplasma Pneumoniae, associated to autoimmune axonal polyneuropathy, clinical variant of Guillain-Barré Syndrome in children?

Introducción: Mycoplasma penumoniae es un patógeno reconocido como principal agente causal de neumonía atípica, así como también por generar diferentes tipos de complicaciones extrapulmonares, especialmente de carácter neurológico y afectar directamente el sistema nervioso, gracias a sus mecanismos de virulencia, mimetismo y de inmunomodulación en el huésped. Causa afecciones como neuropatías, polineuropatías, encefalopatías, síndrome de Guillain Barré y otros. Objetivo: Reforzar en el área pediátrica la necesidad de modificar criterios diagnósticos e incorporar variantes clínicas del síndrome de Guillain Barre, además de instrumentos para diagnóstico de afecciones neuropáticas. Presentación del caso: Paciente masculino, 9 años 8 meses de edad, quien consulta en repetidas ocasiones por: dispepsias, episodios de diarrea, constipación y fiebre. Se constató según consulta: disbiosis, resfriado común, y finalmente, neumonía atípica por Mycoplasma Pneumoniae. Paciente evoluciona, con debilidad muscular, paresia, hiperalgesia y alodinia de extremidades superiores e inferiores. Acude a neurólogo, quien indica exámenes neurofisiológicos (velocidad de conducción nerviosa, potenciales evocados y se descartó una electromiografía, debido a la hiperalgesia). Se diagnosticó una polineuropatía axonal, la que se caracterizó por presentar ciertos aspectos del síndrome de Guillain-Barré. Tanto la evolución clínica de este síndrome, así como sus variantes clínicas, tienen un curso en adultos, caracterizado por un comienzo y signos distintos, lo que puede retrasar y errar el diagnóstico en pacientes pediátricos. Conclusiones: Hace falta nuevos criterios diagnósticos y su amplitud y herramientas de abordaje, para hacer un diagnóstico rápido y eficaz, y contribuir a la recuperación optima del paciente(AU)

Introduction: Mycoplasma pneumoniae is a pathogen know as to the main causal agent of atypical pneumonia, as well as to generate different extrapulmonary sickness, especially in neurological ways, directing to the nervous system, thanks to all its different mechanisms, like: virulence, mimetysm and immunomodulation in to the host. Producing, pathologies like neuropathies, polyneuropathies, encephalopathies, Guillain Barré Syndrome. Objetives: To highlight in the pediatric area, the need to modificate diagnosis criteria and incorporate Guillain-Barre Syndrome clinicals variants, also instruments to diagnosis of neuropathic pathologies. Case presentation: Male patient, 9 years, 8 months old, who consulted in repeated occasions for: dyspepsia, diarrhea and constipation episodes and fiber. Confirmed according to consultation: dysbiosis, common cold, and finally, atypical pneumonia by Mycoplasma Pneumoniae. The patient evolves with: muscular weakness, hyperalgesia and allodynia of upper and inferior extremities. Then, the Neurologist, indicates neurophysiological exams (nerve conduction velocity, evoked potentials, discarding an electromyography, due to hyperalgesia). Diagnosing an axonal polyneuropathy. Which was characterized to present some same aspects, from clinical course of Guillain-Barre Syndrome. Highlighting that the clinical evolution, as also, the syndrome clinical variants, has it a course in adults, characterized by a different beginning and signs, than in children. Retarding and do a wrong diagnosis in pediatric patients. Conclusion: Lack of new diagnosis criteria, the amplitude of these and tools of approach to give a fast and effective diagnosis, and contribute to the optimal recovery of the patient(AU)

Polineuropatía desmielinizante inflamatoria crónica: revisión a propósito de un caso / Chronic inflammatory demyelinating polyneuropathy: review, case and report

Resumen La polineuropatía desmielinizante inflamatoria crónica (CIDP por sus siglas en inglés) corresponde a un espectro de diferentes fenotipos clínicos caracterizados por lesiones de naturaleza autoinmune, inflamatoria y desmielinizante, que afectan primariamente nervios periféricos y raíces nerviosas. Generalmente, los pacientes con CIDP presentan un curso crónico de discapacidad neurológica, pero hasta un tercio de los casos puede exhibir un curso remitente-recidivante. El fenotipo clásico involucra compromiso simétrico de la fuerza muscular y la sensibilidad proximal y distal, asociado a arreflexia generalizada. El diagnóstico requiere la demostración de la desmielinización de nervios mediante electromiografía o biopsia de nervios. Debido a la afectación de personas relativamente jóvenes, laboralmente activos, y a la gran discapacidad neurológica que puede generar, el tratamiento debiera ser iniciado precozmente. Los pilares de la terapia en su fase inicial son los corticoides intravenosos en altas dosis, inmunoglobulina intravenosa y la plasmaféresis, mientras que la terapia de mantención se basa, principalmente, en el uso de corticoides orales a bajas dosis. Este artículo presenta el caso de un paciente evaluado en nuestro hospital y diagnosticado con CIDP, y expone una revisión bibliográfica actualizada de la enfermedad.

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) can be defined as a spectrum of different clinical phenotypes which are characterized by autoimmune, inflammatory and demyelinating injuries, primarily affecting the peripheral nerves and nerve roots. Most patients with CIDP have a chronic course of neurological disability, but about a third of cases exhibit a relapsing-remitting course. Classic phenotype of CIDP involves symmetric compromise of proximal and distal muscle strength and sensitivity, associated with generalized areflexia. For an accurate diagnosis, demonstration of nerve demyelination by electromyography or nerve biopsy is required. Due to the affectation of relatively young, labor-active people and the high risk for neurological disability by the disease, treatment should be initiated early. The predominant lines of therapy, in its initial phase, are high-dose intravenous corticosteroids, intravenous immunoglobulin and plasmapheresis, while the maintenance therapy is mainly based on low-dose oral corticosteroids. This article presents a case report of a patient evaluated in our hospital and diagnosed with CIDP and exposes an updated literature review about this disease.

Rara presentación de polineuropatía distal hipoglicémica causada por un insulinoma en el contexto de una neoplasia endocrinamúltiple tipo 1 / An unusual presentation of hypoglycemic distal polyneuropathy caused by an insulinoma in the context of multiple endocrine neoplasia 1

La neoplasia endocrina múltiple tipo 1 es una enfermedad de rara presentación. Se caracteriza por el compromiso tumoral neuroendocrino, de paratiroides, hipófisis y enteropancreático. Presentamos el caso de una paciente de 19 años con síntomas de cefalea, convulsiones y debilidad de las cuatro extremidades. Se confirmó la presencia de hipoglicemia 33mg/dL. El estudio elecromiográfico evidenció polineuropatía sensitivo motora en las cuatro extremidades. La resonancia magnética abdominal mostró un tumor en la cola del páncreas que luego de la pancreatectomía se confirmó como insulinoma. La glicemia se normalizó. Además, presentó un macroadenoma hipofisario, hiperparatiroidismo primario y tumor adrenal no funcionante. A los 25 años presentó cefalea intensa y amaurosis de ojo derecho, en la tomografía axial se evidenció tumoración hipofisaria gigante y en estudio de patología se diagnosticó neoplasia maligna condroide (cordoma).

Multiple endocrine neoplasia type 1 is a rare disease. It is characterized by the neuroendocrine, parathyroid, pituitary, and enteropancreatic tumor involvement. We present the case of a 19 year old patient with symptoms of headache, convulsions and weakness of the four extremities. The presence of hypoglycemia 33mg/dL was confirmed. The electromyographic study showed motor sensory polyneuropathy in all four extremities. The abdominal magnetic resonance showed a tumor in the tail of the pancreas that after the pancreatectomy was confirmed as insulinoma. The glycemia was normalized. In addition, he presented a pituitary macroadenoma, primary hyperparathyroidism and non-functioning adrenal tumor. At 25 years of age, he presented severe headache and amaurosis of the right eye. Axial tomography showed a giant pituitary tumor and in the study of pathology chondroid malignancy (chordoma) was diagnosed.